X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: Heterozygote has two clonal populations

Barbara R. Migeon, Vazken M. Der Kaloustian, William L. Nyhan, William J. Young, Barton Childs

Research output: Contribution to journalArticlepeer-review

Abstract

Clones of skin fibroblasts cultured from the mother of two sons with X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency (Lesch-Nyhan syndrome) were assayed for activity of this enzyme by measurement of the incorporation of 3H-guanine into guanylic acid as counts per minute per microgram of protein and by autoradiography. The demonstration of two populations of clones, wild-type clones with normal enzyme activity and mutant clones unable to incorporate 3H-guanine, is evidence that the locus for hypoxanthineguanine phosphoribosyl transferase on one of the X chromosomes is inactive.

Original languageEnglish (US)
Pages (from-to)425-427
Number of pages3
JournalScience
Volume160
Issue number3826
DOIs
StatePublished - Jan 1 1968

ASJC Scopus subject areas

  • General

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